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. 2019 Nov 29;13(1):60.
doi: 10.1186/s40246-019-0250-2.

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features

Yibo Chen  1 , Qi Yu  1 , Xiongying Mao  1 , Wei Lei  2 , Miaonan He  3 , Wenbo Lu  4
Affiliations

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features

Yibo Chen et al. Hum Genomics. .

Abstract

Background: Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletions and duplications could be found by NIPT. This study is to review the efficacy of NIPT as a screening test for aneuploidies and CNVs in 42,910 single pregnancies.

Methods: A total of 42,910 single pregnancies with different clinical features were recruited. The cell-free fetal DNA was directly sequenced. Each of the chromosome aneuploidies and the subchromosomal microdeletions/microduplications of PPV were analyzed.

Results: A total of 534 pregnancies (1.24%) were abnormal results detected by NIPT, and 403 pregnancies had underwent prenatal diagnosis. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), and other chromosome aneuploidy was 79.23%, 54.84%, 13.79%, 33.04%, and 9.38% respectively. The PPV for CNVs was 28.99%. The PPV for CNVs ≤ 5 Mb is 20.83%, for within 5-10 Mb 50.00%, for > 10 Mb 27.27% respectively. PPVs of NIPT according to pregnancies characteristics are also different.

Conclusion: Our data have potential significance in demonstrating the usefulness of NIPT profiling not only for common whole chromosome aneuploidies but also for CNVs. However, this newest method is still in its infancy for CNVs. There is still a need for clinical validation studies with accurate detection rates and false positive rates in clinical practice.

Keywords: Chromosome aneuploidies; Clinical features; Microdeletion/microduplication syndromes (MMS); Noninvasive prenatal testing (NIPT); Positive predictive value (PPV).

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Conflict of interest statement

The authors declare that they have no competing interests and the patients in this case report had provided their consent for publication.

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Flowchart of non-invasive prenatal test (NIPT) results and clinical outcome of pregnant women
See this image and copyright information in PMC

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